DSTYK

dual serine/threonine and tyrosine protein kinase
OMIM: 612666
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805, Autosomal Recessive Complicated Spastic Paraparesis SPG23
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1, {Congenital anomalies of kidney and urinary tract, susceptibility to}, {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805, Renal hypodysplasia, vesicoureteric reflux, ureteropelvic junction obstruction